Article
Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.
The Journal of clinical investigation - 1 Mar 1993
van Weely S, van den Berg M, Barranger J A, Sa Miranda M C, Tager J M, Aerts J M
Abstract excerpt
The properties of control and 370Asn-->Ser glucocerebrosidase, the frequently encountered mutated form of the enzyme in type 1 Gaucher disease, were studied in vitro as well as in situ. The catalytic properties of purified 370Asn-->Ser glucocerebrosidase were highly dependent on the assay conditi...
Topics
- Amino Acid Sequence
- Asparagine
- Cells, Cultured
- Fibroblasts
- Gaucher Disease
- Genotype
- Glucosylceramidase
- Humans
- Hydrogen-Ion Concentration
- Immunohistochemistry
- Kinetics
- Mutation
- Reference Values
- Serine
- Skin